Advances in sequencing technology have improved access to whole exome sequencing (WES) and whole-genome sequencing (WGS) for discovery of rare mutations influencing disease risk. In this workshop, we share new approaches to rare variant detection that offer enhanced workflow simplicity and flexibility, with the potential to enable broader use in laboratories of any size to uncover new insights by sequencing more diverse populations.
First, Catherine Brownstein, MPH, PhD, Harvard University describes a large WGS project using an AVITI benchtop sequencer in a small laboratory setting on a scale previously reserved for production-scale labs. In this project, over 850 samples from a Mexican cohort of early onset psychosis patients were sequenced over 310 flow cells with robust run metrics. Initial results reveal a high yield of structural variation and alterations in known neuropsychiatrically associated genes. This study demonstrates a path to achieving high quality hWGS sequencing without large batching or factory-size sequencers.
Next, Shawn Levy, PhD, Chief Scientific Officer, shares how we’re expanding what’s possible on a benchtop platform through innovation of simplified workflows, integrated multiomic capabilities, and scalability. He shares how our new Trinity WES workflow moves labor intensive steps onto the AVITI System, saving time without compromising performance or cost. Notably, by eliminating the need for post-enrichment amplification, Trinity yields consistently lower duplication rates compared to in-solution WES. He also describes how you can unlock complex biological insights with a single experiment using our next gen AVITI™ platform that enables both NGS and in situ multiomic in one powerful system.